Josef Finsterer

Comment on &#x201c;Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands&#x201d;

Background. Coronavirus disease 2019 (COVID-19) is a newly recognized infectious disease that has turned into a pandemic. There are few studies reporting Guillain&#x2013;Barr&#xe9; syndrome (GBS) and stroke separately associated with COVID-19. In this study, we report an unusual case of COVID-19 with stroke and GBS concurrently. Case Report. A 59-year-old woman presented with left-sided weakness of two weeks&#x2019; duration followed by right-sided weakness and foot paresthesia. She also complained of cough, myalgia, and respiratory distress of three weeks&#x2019; duration. On examination, the patient had respiratory distress. The limb examination revealed asymmetric weakness. All limb reflexes were absent. Pinprick sensation was impaired. The chest CT scan and PCR of nasopharyngeal swab confirmed the diagnosis of COVID-19. Further evaluation revealed acute cerebral infarction and GBS. Consequently, the patient was treated by plasmapheresis, and her symptoms partially improved. Conclusion. According to reports, 36.4&#x0025; of COVID-19 cases display neurological complications. The neurological manifestations of the disease can involve both the central and peripheral nervous systems. Previously, a few cases of GBS and cerebrovascular disease have been reported in association with COVID-19 separately, while in the present case, CNS and PNS involvement occurred concurrently. It is hypothesized that this concurrence is related to the imbalance of the systemic inflammatory responses and blood vessel autonomous dysfunction.

Behnaz Ansari

Helia Hemasian

Peculiar Presentation of COVID-19: A Case Report of Concurrent Stroke and Guillain&#x2013;Barr&#xe9; Syndrome

Introduction. Complications following craniotomy are not uncommon and Sinking Skin Flap Syndrome (SSFS) constitutes a rare entity that may present after a large Decompressive Craniectomy. Although the entity is widely reported, the literature mostly consists of case reports. Authors present a case series of three patients with review of literature highlighting the various factors which can prove therapeutic and can help in avoidance of complications. Materials and Methods. The study was conducted over a period of 3 years, from 2016 to 2019, and included 212 patients who underwent unilateral Decompressive Craniectomy (DC) for trauma in our institute. All 212 patients underwent a similar DC following a strict institutional protocol and the craniectomies were performed by the same surgical team. At total of 160 patients survived and elective cranioplasty was planned at a 3-month interval. Out of a total of 160 patients who survived, 38 developed hydrocephalus, 3 patients presented with hydrocephalus acutely and had to be shunted before cranioplasty and underwent ventriculoperitoneal (VP) shunting on the opposite side of craniectomy. All 3 of these patients developed SSFS and were the focus of this case series wherein review of literature was done with emphasis being laid on the salient features towards management of SSFS in such precranioplasty shunted patients. These 3 patients were treated via rehydration using normal saline (NS) till the Central Venous Pressure (CVP) equaled 8&#x2013;10&#x2009;cm of water, nursing in Trendelenburg position and shunt occlusion using silk 3-0 round bodied suture tied over a &#x201C;C&#x201D;-loop of VP shunt tube over clavicle. This was followed by cranioplasty within 2 days of presentation using a flattened, nonconvex artificial Polymethyl Methacrylate (PMMA) bone flap with central hitch suture taken across the bone flap and release of shunt tie in immediate postoperative period. The PMMA bone flap was made intraoperatively after measuring the defect size accurately after exposure of defect. 3D printing option was not availed by any patient considering the high cost and patients&#x2019; poor socioeconomic status. Results. Out of a total of 212 patients, thirty-eight patients (19&#x0025;) developed posttraumatic hydrocephalus and out of 38, three presented with SSFS over the course of time. Two patients presented with hemiparesis of the side opposite to sunken flap while 1 other patient was brought by relatives in stuporous state. All 3 were subjected to VP shunt tie, rehydration, and cranioplasty using flattened artificial bone flap and showed gradual recovery in postoperative period without any complications. Conclusion. Various factors like nursing in Trendelenburg position, adequate rehydration, early cranioplasty after resolution of oedema, preoperative tying of VP shunt and its subsequent release in immediate postoperative period, use of flattened PMMA bone flaps, placement of a central dural hitch suture across the bone, and a preoperative central burr hole in the bone flap may accelerate healing and, in most cases, reversal of sensory-motor deficits along with reduction in complication rates.

Ashish Chugh

Prashant Punia

Sarang Gotecha

Sinking Skin Flap Syndrome following Posttraumatic Hydrocephalus

Introduction. Although the posterior reversible encephalopathy syndrome (PRES) is often associated with headache and visual changes, central-variant PRES can be difficult to clinically diagnose in a patient with alteration of consciousness. Central-variant PRES has been previously described in the literature affecting subcortical white matter and the brainstem. Case Presentation. We describe a case presenting with hypertension (192/98) and altered level of consciousness requiring intubation. She was ultimately found to have extensive symmetric cortical and subcortical edema, with extensive involvement of bilateral thalami, consistent with central-variant PRES. Her mentation rapidly improved with blood pressure management. Confirmation of the diagnosis of central-variant PRES was made on repeat brain imaging. Our case is unique in demonstrating dramatic central white matter changes and their reversibility on repeat imaging six days later. Finally, persistent cognitive deficits at follow-up four months later are described. Conclusion. Atypical presentations of PRES, involving alterations in levels of consciousness, can be difficult to clinically diagnose. A thorough differential diagnosis is even more important in cases of PRES with atypical imaging. Recognition of the diagnostic patterns of PRES on brain imaging, with prompt reversal of the causative factors, is crucial for the appropriate care of these patients. The long-term sequelae, which could include cognitive deficits, are poorly studied and understood.

Joseph Seemiller

Muhammad Taimur Malik

Cognitive Sequelae of Central-Variant Posterior Reversible Encephalopathy Syndrome (PRES)

Guillain&#x2013;Barr&#xe9; syndrome (GBS) is a rare acute demyelinating syndrome of the peripheral nervous system that is commonly preceded by infection. Vaccinations have also been associated with an increased incidence of GBS, though the risk is low. Caution with revaccination is recommended in patients with a history of GBS. Risks of revaccination compared with the risks of influenza complications should be considered. Patients who experience GBS after vaccination have not been shown to have an increased incidence of recurrent GBS after the influenza vaccine, though evidence is limited. We report a case of recurrent GBS in a patient following the influenza vaccine.

Gregory Griffin

Brittany Cunningham

Jonathan M. Beary

Yonatan Spolter

Richard Gandee

Christopher R. Newey

Lighting Strikes Twice: Recurrent Guillain&#x2013;Barr&#xe9; Syndrome (GBS) after Influenza Vaccination

Stiff-person syndrome (SPS) is a rare disorder seen in approximately one in one million people. Although it is rare, the symptoms and findings of a typical case should paint a clear clinical picture for those who are familiar with the disease. The primary findings in SPS include progressive axial muscle rigidity as well as muscle spasms. These symptoms most commonly occur in the setting of antibodies against Glutamic Acid Decarboxylase (GAD), the rate-limiting enzyme in the production of Gamma-Aminobutyric Acid (GABA), which is the primary inhibitory enzyme in the central nervous system. Here, we report the case of a 65-year-old African-American female with a past medical history of hypothyroidism, anxiety, and depression with psychotic features who presented with axial muscle rigidity and lactic acidosis. She had been symptomatic for several months and reported extensive workups performed at two previous hospitals without a definitive diagnosis. A complete neurological and musculoskeletal investigation yielded no positive findings except for the presence of GAD antibodies. The patient was treated with diazepam, tizanidine, and Intravenous Immunoglobulin (IVIG) with significant improvement, thus solidifying the diagnosis of SPS, a rare autoimmune and/or paraneoplastic syndrome.

Jared Hicken

Daniel Ramirez

Mark Rigby

Aram Minasian

Stiff-Person Syndrome: Seeing Past Comorbidities to Reach the Correct Diagnosis

Introduction. Spinal neurosarcoidosis is a rare disease that can manifest as myelopathy, radiculopathy, or cauda equine syndrome. Spinal epidural lipomatosis is also a rare condition resulting from overgrowth of epidural fat tissue causing compressive myelopathy. To our knowledge, there are no reports linking epidural lipomatosis and spinal neurosarcoidosis. Case Report. We describe a case of progressive myelitis in the presence of concomitant spinal neurosarcoidosis and epidural lipomatosis which was a challenging diagnosis with complete response to treatment after addressing both diseases. Both etiologies are inflammatory in nature and share similar expression of inflammatory factors such as TNF-&#x3b1; and IL-1&#x3b2;. Conclusion. The common inflammatory process involved in these two diseases might explain a pathophysiological interconnection between both diseases that may underlie their concomitant development in our patient. If these two diseases are interconnected, in their pathophysiological mechanism remains a hypothesis that will need further investigation.

Nesreen Jaafar

Maria Khoueiry

Samia J. Khoury

Achraf Makki

Rare Case of Spinal Neurosarcoidosis with Concomitant Epidural Lipomatosis

Neuroleptic malignant syndrome (NMS) is a potentially fatal diagnosis composed of hyperpyrexia, muscle rigidity, altered mental status, and autonomic instability. This syndrome has significant systemic complications including acute renal failure, rhabdomyolysis, hyperkalemia, and seizure. It is associated with the use of both typical and atypical antipsychotics. Due to the extensive neurodegenerative destruction of dopaminergic and acetylcholinergic pathways, patients with Lewy body dementia (LBD) are particularly sensitive to antidopaminergic and anticholinergic medications, making them more susceptible to extrapyramidal side effects and NMS. We present a case of a 72-year-old female with LBD who developed muscular rigidity, vital sign instability, and altered mental status after receiving one dose of paliperidone palmitate injection two weeks prior to admission. Initial blood work was unrevealing. Extensive workup including EEG, lumbar puncture with cerebrospinal fluid analysis, and brain MRI was unremarkable. She was treated with seven days of bromocriptine and a lorazepam taper with improvement in muscle rigidity. However, her mental status never improved, and she remained comatose. She was later intubated for airway protection after an aspiration event that led to hypoxia. Her respiratory status never recovered, and she was transitioned to comfort care. This case demonstrates the complexity and potential fatality of NMS. Clinicians should be aware of this dangerous complication of antipsychotic use in patients with LBD as these patients may be more susceptible to this complication.

Ho-Man Yeung

Sarah Schmitz

Nino Kvantaliani

Christina Martin

Development of Neuroleptic Malignant Syndrome in a Patient with Lewy Body Dementia after Intramuscular Administration of Paliperidone

Introduction. Melkersson&#x2013;Rosenthal syndrome (MRS) is a neuromucocutaneous disorder characterized by the following classic symptom triad: peripheral facial paralysis, orofacial edema, and scrotal or fissured tongue. It is rare, and since most of the patients are oligo- or monosymptomatic, it makes it difficult to diagnose. Clinical Case. We present a 26-year-old male patient with a history of sickle cell trait, untreated snoring, and left peripheral facial paralysis when he was 11 years old. This was an overall 20-day clinical profile that started with left peripheral facial paralysis, which was accompanied by moderate-intensity occipital pulsatile headaches. Additionally, the patient experienced paresthesias in the tongue and feelings of labial edema. After one week, he manifested peripheral facial paralysis on the right side. Physical examination revealed bilateral peripheral facial paralysis, mild labial edema, and a scrotal or fissured tongue. The patient received corticosteroids, which resulted in improvement of the edema and facial paralysis. Discussion. MRS is a rare disorder that predominantly affects women, typically starting in their 20s or 30s. The etiology is unknown. However, a multifactorial origin that involves environmental factors and a genetic predisposition has been proposed, which causes a dysfunction of the local immune system and autonomic nervous system (ANS) and an appearance of granulomatous inflammation in the lips and tongue. Facial paralysis usually appears later on; however, it can occur from its clinical debut. There are no curative treatments. Therapy is focused on modulating the patient&#x27;s immune response, and relapses are frequent.

Gustavo Gaitan-Quintero

Loida Camargo-Camargo

Norman L&#xf3;pez-Vel&#xe1;squez

Miguel Gonz&#xe1;lez

Presentation of Bilateral Facial Paralysis in Melkersson&#x2013;Rosenthal Syndrome

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Case Reports in Neurological Medicine